Zoll, Barbara

[["dc.bibliographiccitation.artnumber","10"],["dc.bibliographiccitation.journal","Molecular Cytogenetics"],["dc.bibliographiccitation.volume","2"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Bruemmer, Verena"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Boehm, Detlef"],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Argyriou, Loukas"],["dc.contributor.author","Bartels, Iris"],["dc.date.accessioned","2018-11-07T08:35:08Z"],["dc.date.available","2018-11-07T08:35:08Z"],["dc.date.issued","2009"],["dc.description.abstract","Background: Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR). The aim of the study was to evaluate a quantitative PCR (qPCR) protocol established by Boehm et al. (2004) in the clinical routine of subtelomeric testing. Results: 296 patients with MR and a normal karyotype (500-550 bands) were screened for subtelomeric imbalances by using qPCR combined with SYBR green detection. In total, 17 patients (5.8%) with 20 subtelomeric imbalances were identified. Six of the aberrations (2%) were classified as causative for the symptoms, because they occurred either de novo in the patients (5 cases) or the aberration were be detected in the patient and an equally affected parent (1 case). The extent of the deletions ranged from 1.8 to approximately 10 Mb, duplications were 1.8 to approximately 5 Mb in size. In 6 patients, the copy number variations (CNVs) were rated as benign polymorphisms, and the clinical relevance of these CNVs remains unclear in 5 patients (1.7%). Therefore, the overall frequency of clinically relevant imbalances ranges between 2% and 3.7% in our cohort."],["dc.identifier.doi","10.1186/1755-8166-2-10"],["dc.identifier.isi","000208460900009"],["dc.identifier.pmid","19284615"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/5765"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17987"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1755-8166"],["dc.rights","CC BY 2.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.0"],["dc.title","Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","65"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Cytogenetic and Genome Research"],["dc.bibliographiccitation.lastpage","70"],["dc.bibliographiccitation.volume","139"],["dc.contributor.author","Schmidt, T."],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Shoukier, Moneef"],["dc.date.accessioned","2018-11-07T09:30:55Z"],["dc.date.available","2018-11-07T09:30:55Z"],["dc.date.issued","2013"],["dc.description.abstract","Here, we report a 3-year-old boy with short stature, developmental delay and mild facial dysmorphic signs. Karyotype analysis and array-CGH revealed a pure duplication 5q22.1q23.2 with a length of 14.25 Mb. As demonstrated by multicolor-fluorescence in situ hybridization, the duplicated segment was orientated in an inverted tandem manner. One of the 2 older half-brothers of the index patient was intellectually disabled and showed short stature as well. The mother of the siblings was only 149 cm in height. The affected half-brother as well as the mother of the siblings were tested positive for the same duplication. Duplications of the long arm of chromosome 5 are rare. There are 16 reported cases of different 5q segments with a pure duplication and no additional chromosomal imbalance. In order to refine the 5q-duplication phenotype, reported cases were recently classified in 3 groups on the basis of clinical findings and the involved chromosome segments. However, our case does not fit in any of these groups but is placed in the interjacent chromosomal area between 2 of these groups. Overall, this is the second reported family with a duplication of 5q22.1q23.2 and both families share phenotypic features like short stature, facial dysmorphic signs and speech delay. The reported family provides further information for delineating phenotype-genotype correlations of pure duplications of the 5q region. Copyright (C) 2012 S. Karger AG, Basel"],["dc.identifier.doi","10.1159/000342914"],["dc.identifier.isi","000312004200010"],["dc.identifier.pmid","23051634"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/9489"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/31425"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Karger"],["dc.relation.issn","1424-8581"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","A Family with an Inverted Tandem Duplication 5q22.1q23.2"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","59"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","64"],["dc.bibliographiccitation.volume","137A"],["dc.contributor.author","von Beust, G."],["dc.contributor.author","Sauter, Simone M."],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Stark, Holger"],["dc.contributor.author","von Eggeling, F."],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T10:56:47Z"],["dc.date.available","2018-11-07T10:56:47Z"],["dc.date.issued","2005"],["dc.description.abstract","We report on a girl with mosaicism. (65%) of a de novo supernumerary ring chromosome 7. The main clinical features were delayed psychomotor development, congenital heart defect, facial dysmorphisms, and long hands, fingers, feet and toes. Molecular cytogenetic analysis revealed that the ring chromosome was duplicated in 20% of the analyzed metaphases with marker chromosome and quadruplicated in 5% thereof. Uniparental disomy (UPD) of the two normal sister chromosomes 7 was excluded. This is, to our knowledge, the first report of a partial tetrasomy to hexasomy due to a ring chromosome 7. Additionally, the ring evolution could be reconstructed according to the FISH-results. (c) 2005 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.30835"],["dc.identifier.isi","000231009900011"],["dc.identifier.pmid","16007665"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/50099"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Molecular cytogenetic characterization of a De Novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","121"],["dc.bibliographiccitation.issue","1-2"],["dc.bibliographiccitation.journal","Cytogenetic and Genome Research"],["dc.bibliographiccitation.lastpage","123"],["dc.bibliographiccitation.volume","132"],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Ewers, E."],["dc.contributor.author","Mrasek, K."],["dc.contributor.author","Kosyakova, N."],["dc.contributor.author","Merkas, M."],["dc.contributor.author","Hamid, A. B."],["dc.contributor.author","von Eggeling, F."],["dc.contributor.author","Posorski, N."],["dc.contributor.author","Weise, A."],["dc.date.accessioned","2018-11-07T09:02:07Z"],["dc.date.available","2018-11-07T09:02:07Z"],["dc.date.issued","2011"],["dc.description.abstract","Unbalanced chromosomal abnormalities (UBCA) are reported for >50 euchromatic regions of almost all human autosomes. UBCA are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on a partial trisomy of chromosome 4 of the centromere-near region of the short arm of chromosome 4 present as a small supernumerary marker chromosome (sSMC). The sSMC was present in >70% of amnion cells and in 60% of placenta. Further delineation of the size of the duplicated region was done by molecular cytogenetics and array comparative genomic hybridization. Even though the sSMC lead to a partial trisomy of similar to 9 megabase pairs, a healthy child was born, developing normally at 1 year of age. No comparable cases are available in the literature. Thus, we discuss here the possibility of having found a yet unrecognized chromosomal region subject to UBCA. Copyright (C) 2010 S. Karger AG, Basel"],["dc.identifier.doi","10.1159/000316393"],["dc.identifier.isi","000283866600018"],["dc.identifier.pmid","20639618"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/8160"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/24604"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Karger"],["dc.relation.issn","1424-859X"],["dc.relation.issn","1424-8581"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1091"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","1099"],["dc.bibliographiccitation.volume","143A"],["dc.contributor.author","Sauter, Simone M."],["dc.contributor.author","Boehm, Detlef"],["dc.contributor.author","Bartels, Iris"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Laccone, Franco A."],["dc.contributor.author","Neesen, Juergen"],["dc.contributor.author","Wilken, Bernd"],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T11:02:22Z"],["dc.date.available","2018-11-07T11:02:22Z"],["dc.date.issued","2007"],["dc.description.abstract","We report on a 2 7/12-year-old girl who was referred to us because of psychomotor developmental delay. She is the second child of healthy, non-consanguineous parents Pregnancy and birth were uneventful. Milestones of motor development were delayed: grasping at 6 months, sitting without support at 16 months, crawling at 16 months and walking at 2 4/12 years of age. She spoke about five words and followed simple instructions. Banding cytogenetics revealed simple instructions. Banding cytogenetics revealed a numerically and structurally normal female karyotype of 46 XX By quantitive real-time PCR analysis of all subtelomeric regions, a partial trisomy of the subtelomeric region of 19q could he detected. This result confirmed by FISH-analysis with a subtelomeric for 19q The additional material of chromosome 19q was localized on chromosome 6q. However, a deletion of the subtelomeric region of 6q could not be deleted with a subtelomeric FISH probe for 6q. Conventional cytogenetic analysis as well as FISH with subtelomeric probes for 19q and 6q showed normal results in the parents. The detected chromosomal aberration probably occured de novo. The clinical features are very likely to be caused solely by the partial trisomy 19q. (c) 2007 Wiley-Liss Inc."],["dc.identifier.doi","10.1002/ajmg.a.31686"],["dc.identifier.isi","000246237700011"],["dc.identifier.pmid","17431920"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/51368"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Cytogenetic and Genome Research"],["dc.bibliographiccitation.lastpage","8"],["dc.bibliographiccitation.volume","98"],["dc.contributor.author","Trappe, Ralf"],["dc.contributor.author","Bohm, D."],["dc.contributor.author","Kohlhase, Juergen"],["dc.contributor.author","Weise, A."],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Essers, G."],["dc.contributor.author","Meins, M."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Burfeind, Peter"],["dc.date.accessioned","2018-11-07T10:32:57Z"],["dc.date.available","2018-11-07T10:32:57Z"],["dc.date.issued","2002"],["dc.description.abstract","In the present study, we present a novel reciprocal translocation t(2;20)(p24.1;q13.1) and its segregation in a three generation family. The rate of miscarriages (50%) in pregnancies from male translocation carriers Could be explained by unbalanced translocation-bearing spermatozoa found with a frequency of approximately 55% in the entire sperm population of a t(2;20)(p24.1;q13.1) carrier. These imbalanced spermatozoa mainly present as 2, der(20) and der(2), 20 missegregated (approximately 46%) while adjacent 2 and 3:1 segregation patterns account for approximately 5% and 4% of imbalances, respectively. While the translocation is associated clearly with an increased risk of early abortions (7/12) in both male and female carriers, no malformed livebirths were observed. Our results suggest complete embryonic lethality of imbalanced offspring. With respect to a high rate of segregation to 2, der(20) and to der(2), 20 imbalanced spermatozoa in male translocation carriers and with respect to known cases of partial trisomy 2p and 20q we consider that their corresponding monosomies result in fetal loss. This is the First study reporting multiple abortions associated with partial monosomy 20q13.1 --> qter and 2pter --> p24.1 and the First report on the frequency of chromosomal imbalances in gametes of a male t(2;20)(p24.1;q13.1) heterozygote. Copyright (C) 2002 S. Karger AG, Basel."],["dc.identifier.doi","10.1159/000068533"],["dc.identifier.isi","000181318500001"],["dc.identifier.pmid","12584434"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/44481"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation.issn","1424-8581"],["dc.title","A novel family-specific translocation t(2;20)(p24.1;q 13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","533"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","536"],["dc.bibliographiccitation.volume","120A"],["dc.contributor.author","Sauter, Simone M."],["dc.contributor.author","von Beust, G."],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Weise, A."],["dc.contributor.author","Starke, H."],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T10:37:03Z"],["dc.date.available","2018-11-07T10:37:03Z"],["dc.date.issued","2003"],["dc.description.abstract","We report on a 3-year-old boy with a moderate to severe mental retardation, autistic behavior patterns, and myoclonic epilepsy of early childhood. The cytogenetic analysis of blood lymphocytes revealed a deletion of chromosome 20pter --> p12.2 occurring as mosaicism in 8% of the analyzed metaphases:46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. The deletion was confirmed by the recently developed multicolor banding approach and additionally by region specific fluorescence in situ hybridization (FISH) probes. To the best of our knowledge, this is the first report on a patient with autistic behavior with terminal 20p deletion mosaicism reported up to present. (C) 2003 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.20089"],["dc.identifier.isi","000184516300014"],["dc.identifier.pmid","12884434"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/45472"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","0148-7299"],["dc.title","Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter -> p12.2)[10]"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","133"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","European Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","138"],["dc.bibliographiccitation.volume","50"],["dc.contributor.author","Bartels, Iris"],["dc.contributor.author","Starke, Heike"],["dc.contributor.author","Argyriou, Loukas"],["dc.contributor.author","Sauter, Simone M."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Liehr, Thomas"],["dc.date.accessioned","2018-11-07T11:04:19Z"],["dc.date.available","2018-11-07T11:04:19Z"],["dc.date.issued","2007"],["dc.description.abstract","A 27-year-old man was referred for chromosome analysis due to infertility caused by azoospermia. Chromosome analysis by conventional karyotyping, multicolour FISH (M-FISH) and multicolour banding (MCB) analysis revealed an apparently balanced translocation between chromosomes 1, 3, 9 and 14 as well as an additional inverted insertion of 3q material with a total of eight breakpoints. Due to the diversity of theoretically unbalanced products of meiotic recombination in this exceptional complex chromosomal rearrangement a successful result of assisted reproduction seems unlikely. (c) 2006 Elsevier Masson SAS. All rights reserved."],["dc.identifier.doi","10.1016/j.ejmg.2006.10.007"],["dc.identifier.isi","000245753100007"],["dc.identifier.pmid","17174164"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/51812"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Bv"],["dc.relation.issn","1769-7212"],["dc.title","An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]